Mitochondrial Genome Sequencing: Comprehensive Genetic Analysis
Understanding Mitochondrial Genome Sequencing
Mitochondrial Genome Sequencing represents a cutting-edge genetic testing approach that examines the complete mitochondrial DNA (mtDNA) to identify mutations and variations associated with mitochondrial disorders. Mitochondria, often called the “powerhouses” of cells, contain their own unique DNA separate from nuclear DNA. This specialized testing provides comprehensive analysis of all 37 genes within the mitochondrial genome, offering crucial diagnostic information for patients with suspected mitochondrial dysfunction.
What This Test Measures and Detects
Our Mitochondrial Genome Sequencing test provides comprehensive analysis of:
- Complete mitochondrial DNA sequence (16,569 base pairs)
- All 37 mitochondrial genes including 13 protein-coding genes
- 22 transfer RNA (tRNA) genes
- 2 ribosomal RNA (rRNA) genes
- Non-coding control region (D-loop)
- Point mutations, deletions, and duplications
- Heteroplasmy levels (mixture of mutant and normal mtDNA)
Who Should Consider Mitochondrial Genome Sequencing?
This advanced genetic test is recommended for individuals experiencing:
- Unexplained neurological symptoms including seizures, stroke-like episodes, or developmental delays
- Progressive muscle weakness, exercise intolerance, or fatigue
- Vision or hearing loss of unknown cause
- Multi-system involvement affecting neurological, muscular, and metabolic functions
- Family history of mitochondrial disorders
- Unexplained metabolic acidosis or lactic acidosis
- Suspected mitochondrial disease based on clinical presentation
Benefits of Mitochondrial Genome Sequencing
Choosing our comprehensive mitochondrial testing provides numerous advantages:
- Accurate Diagnosis: Precise identification of mitochondrial DNA mutations leading to definitive diagnosis
- Treatment Guidance: Results help guide appropriate therapeutic interventions and management strategies
- Family Planning: Essential information for genetic counseling and family planning decisions
- Early Intervention: Enables early detection and intervention for better long-term outcomes
- Comprehensive Analysis: Complete evaluation of the entire mitochondrial genome in a single test
- Expert Interpretation: Results interpreted by board-certified genetic specialists
Understanding Your Test Results
Your Mitochondrial Genome Sequencing results will be carefully interpreted by our genetic specialists:
- Positive Result: Identifies specific mitochondrial DNA mutations known to cause disease, providing clear diagnostic information
- Negative Result: No pathogenic mitochondrial DNA mutations detected, though nuclear DNA testing may be recommended for comprehensive evaluation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical significance requiring further evaluation
- Heteroplasmy Levels: Quantifies the proportion of mutant mitochondrial DNA, which can influence disease severity and progression
All results include detailed interpretation and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | Mitochondrial Genome Sequencing |
| Discount Price | $500 USD |
| Regular Price | $750 USD |
| Turnaround Time | 5 weeks |
| Sample Type | Extracted DNA |
Nationwide Testing Availability
We have testing facilities conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our nationwide network ensures accessible mitochondrial testing for patients throughout the country.
Take Control of Your Health Today
Don’t let unexplained symptoms continue to impact your quality of life. Mitochondrial Genome Sequencing provides the comprehensive genetic analysis needed to understand complex mitochondrial disorders and guide appropriate medical management. Our experienced genetic specialists are ready to help you navigate this important diagnostic journey.
Ready to schedule your Mitochondrial Genome Sequencing test? Contact our genetic testing specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and receiving the expert care you deserve.

